Transporter für dibasische Aminosäuren
Das SLC3A2-Gen kodiert einen Aminosäuretransporter für dibasische und neutrale Aminosäuren, der auch in der Niere exprimiert wird und dessen klinische Bedeutung noch bestimmt werden muss.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Rochelle JM et al. (1992) A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.
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2. |
Cantor J et al. (2011) Loss of T cell CD98 H chain specifically ablates T cell clonal expansion and protects from autoimmunity.
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3. |
Fogelstrand P et al. (2009) Dependence of proliferative vascular smooth muscle cells on CD98hc (4F2hc, SLC3A2).
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4. |
Feral CC et al. (2005) CD98hc (SLC3A2) mediates integrin signaling.
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5. |
Sato H et al. (1999) Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins.
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6. |
Mastroberardino L et al. (1998) Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family.
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7. |
Haynes BF et al. (1981) Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes.
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8. |
Francke U et al. (1983) Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11.
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9. |
Peters PG et al. (1982) Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen.
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10. |
Hemler ME et al. (1982) Characterization of antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines.
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11. |
Posillico JT et al. (1987) Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid hormone secretion.
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12. |
Lumadue JA et al. (1987) Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2.
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13. |
Quackenbush E et al. (1987) Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth.
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14. |
Lindsten T et al. (1988) Regulation of 4F2 heavy-chain gene expression during normal human T-cell activation can be mediated by multiple distinct molecular mechanisms.
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15. |
Gottesdiener KM et al. (1988) Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation.
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16. |
Michalak M et al. (1986) Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal muscle sarcolemmal vesicles by monoclonal antibody 44D7.
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17. |
Courseaux A et al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).
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18. |
NCBI article
NCBI 6520
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19. |
OMIM.ORG article
Omim 158070
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Update: 14. August 2020